Special

HsaEX0049959 @ hg38

Exon Skipping

Gene
Description
PR/SET domain 5 [Source:HGNC Symbol;Acc:HGNC:9349]
Coordinates
chr4:120811370-120821345:-
Coord C1 exon
chr4:120821171-120821345
Coord A exon
chr4:120818353-120818527
Coord C2 exon
chr4:120811370-120811449
Length
175 bp
Sequences
Splice sites
3' ss Seq
GTTTCCTTGTGAATGTGCAGATC
3' ss Score
6.92
5' ss Seq
ACAGTGCGT
5' ss Score
5.66
Exon sequences
Seq C1 exon
GAAGGAGAAAACATTTTCTATTTGGCAGTTGAAGATATAGAAACAGACACGGAGCTTCTGATTGGCTACCTGGATAGTGACATGGAGGCTGAGGAGGAAGAACAGCAAATTATGACAGTCATCAAAGAAGGGGAAGTTGAAAATTCTAGAAGACAATCAACAGCGGGCAGAAAAG
Seq A exon
ATCGCCTTGGCTGTAAAGAGGACTATGCTTGTCCTCAATGTGAATCGAGTTTTACCAGTGAGGATATTCTTGCTGAGCATCTCCAGACATTGCACCAGAAACCCACAGAGGAGAAAGAATTTAAGTGCAAGAACTGTGGGAAGAAATTCCCAGTTAAGCAGGCTTTGCAAAGACA
Seq C2 exon
GAGATCCTAAGAAAAAGCTTATATGTTCAGTGTGCAATAAAAAGTGTTCTTCAGCATCAAGCCTACAGGAACATAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738_MULTIEX2-4/8=3-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.464 A=0.077 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF138941=zf-C2H2_4=WD(100=40.7),PF0009621=zf-C2H2=PU(78.3=30.5)
C2:
PF128742=zf-met=PU(87.0=74.1),PF144711=DUF4428=PU(38.0=70.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAAACATTTTCTATTTGGCAGTTGA
R:
TGTTCCTGTAGGCTTGATGCTG
Band lengths:
242-417
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development